Amanda K. Ombrello - Concepedia

Author

Amanda K. Ombrello

National Human Genome Research Institute ORCID

Also Known As

A Ombrello, A. Ombrello, Amanda K Ombrello, Amanda K. Ombrello, Amanda Ombrello, Christine K. Rauscher, K. Durrant, Karyl S. Barron, Katarzyna Barczyk-Kahlert, Stone, Deborah L.

106

Publications

7.6K

Citations

H-Index

Concepts

All Affiliations

National Human Genome Research Institute National Institutes of Health National Heart Lung and Blood Institute National Institute of Arthritis and Musculoskeletal and Skin Diseases National Institute of Allergy and Infectious Diseases

About

Amanda K. Ombrello is an author at National Human Genome Research Institute specializing in medicine, immunology, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	16	18	2.5K
2	Cell Biology	3	3	442
3	Health Sciences	2	2	206
4	Allergy	2	2	106
5	Biochemistry	1	1	121

Amanda K. Ombrello

Publications

6.9K

Citations

H-Index

Page 1

	Year	Citations
Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease David B. Beck, Marcela A. Ferrada, Keith A. Sikora, New England Journal of Medicine	2020	1.1K
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2 Qing Zhou, Dan Yang, Amanda K. Ombrello, New England Journal of Medicine	2014	871
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease Qing Zhou, Hongying Wang, Daniella M. Schwartz, Nature Genetics InflammationRheumatologyA20 Haploinsufficiency CauseAutoimmune DiseaseAutoantibody Production	2015	601
CD4/CD8 T-Cell Selection Affects Chimeric Antigen Receptor (CAR) T-Cell Potency and Toxicity: Updated Results From a Phase I Anti-CD22 CAR T-Cell Trial Nirali N. Shah, Steven L. Highfill, Haneen Shalabi, Journal of Clinical Oncology	2020	400
A Hypermorphic Missense Mutation in PLCG2 , Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency Qing Zhou, Geun‐Shik Lee, Jillian Brady, The American Journal of Human Genetics Encoding Phospholipase Cγ2Signal TransductionDisease MechanismAutoinflammatory DisordersPathogenesis	2012	370
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease Najoua Lalaoui, Steven E. Boyden, Hirotsugu Oda, Nature Autoinflammatory DisordersPathogenesisImmunologyApoptosisCell Death	2019	316
Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease Qing Zhou, Xiaomin Yu, Erkan Demirkaya, Proceedings of the National Academy of Sciences GeneticsImmunodeficienciesImmune RegulationImmunologyPathology	2016	272
Immune Effector Cell-Associated Hemophagocytic Lymphohistiocytosis-Like Syndrome Melissa Hines, Tristan Knight, Kevin O. McNerney, Transplantation and Cellular Therapy	2023	264
Somatic Mutations in <i>UBA1</i> Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS Marcela A. Ferrada, Keith A. Sikora, Yiming Luo, Arthritis & Rheumatology	2021	228
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in <i>UBA1</i> Ifeyinwa E. Obiorah, Bhavisha A. Patel, Emma M. Groarke, Blood Advances ImmunologyPathologyMyeloid NeoplasiaHematological MalignancyBone Marrow Failure	2021	223

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